Canonical Allele Identifier: CA2797399467

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109591474_109591475insAGA , CM000674.2:g.109591474_109591475insAGA	GRCh38
NC_000012.11:g.110029279_110029280insAGA , CM000674.1:g.110029279_110029280insAGA	GRCh37
NC_000012.10:g.108513662_108513663insAGA	NCBI36
NG_007702.1:g.22780_22781insAGA , LRG_156:g.22780_22781insAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.42+117_42+118insAGA	ENSP00000439134.1:n.42+117_42+118insAGA
ENST00000546277.6:c.885+117_885+118insAGA	ENSP00000438153.2:n.885+117_885+118insAGA
ENST00000636529.2:n.524+117_524+118insAGA
ENST00000697195.1:c.*649+117_*649+118insAGA	ENSP00000513181.1:n.*649+117_*649+118insAGA
ENST00000697196.1:c.*58+117_*58+118insAGA	ENSP00000513182.1:n.*58+117_*58+118insAGA
ENST00000697197.1:n.2914+117_2914+118insAGA
ENST00000228510.8:c.885+117_885+118insAGA MANE Select	ENSP00000228510.3:n.885+117_885+118insAGA
ENST00000636529.1:c.510+117_510+118insAGA
ENST00000636996.1:c.733+117_733+118insAGA
ENST00000228510.7:c.885+117_885+118insAGA	ENSP00000228510.3:n.885+117_885+118insAGA
ENST00000392727.7:c.729+117_729+118insAGA	ENSP00000376487.3:n.729+117_729+118insAGA
ENST00000447878.6:c.*332+117_*332+118insAGA	ENSP00000415555.2:n.*332+117_*332+118insAGA
ENST00000537237.5:c.*558+117_*558+118insAGA	ENSP00000445382.1:n.*558+117_*558+118insAGA
ENST00000539575.4:c.885+117_885+118insAGA	ENSP00000443551.2:n.885+117_885+118insAGA
ENST00000539696.5:c.42+117_42+118insAGA	ENSP00000439134.1:n.42+117_42+118insAGA
ENST00000540353.1:n.3118+117_3118+118insAGA
ENST00000625889.2:c.729+117_729+118insAGA	ENSP00000486846.1:n.729+117_729+118insAGA
ENST00000629016.2:c.*332+117_*332+118insAGA	ENSP00000486804.1:n.*332+117_*332+118insAGA
NM_000431.3:c.885+117_885+118insAGA	NP_000422.1:n.885+117_885+118insAGA
NM_001114185.2:c.885+117_885+118insAGA	NP_001107657.1:n.885+117_885+118insAGA
NM_001301182.1:c.729+117_729+118insAGA	NP_001288111.1:n.729+117_729+118insAGA
XM_011538372.1:c.885+117_885+118insAGA	XP_011536674.1:n.885+117_885+118insAGA
XM_017019313.2:c.729+117_729+118insAGA	XP_016874802.1:n.729+117_729+118insAGA
XM_017019314.1:c.885+117_885+118insAGA	XP_016874803.1:n.885+117_885+118insAGA
XM_024448982.1:c.1002_1003insAGA	XP_024304750.1:p.Asp334_Leu335insArg
NM_000431.4:c.885+117_885+118insAGA MANE Select	NP_000422.1:n.885+117_885+118insAGA
NM_001114185.3:c.885+117_885+118insAGA	NP_001107657.1:n.885+117_885+118insAGA
NM_001301182.2:c.729+117_729+118insAGA	NP_001288111.1:n.729+117_729+118insAGA